ClinVar for Gene (Select 2580) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280482	NM_005255.4(GAK):c.809G>A (p.Arg270Gln)	GAK (R191Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280481	NM_005255.4(GAK):c.1339C>G (p.Pro447Ala)	GAK (P368A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280480	NM_005255.4(GAK):c.1648C>G (p.Pro550Ala)	GAK (P550A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280479	NM_005255.4(GAK):c.2344C>T (p.Pro782Ser)	GAK (P782S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280478	NM_005255.4(GAK):c.1014C>T (p.Tyr338=)	GAK	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3280477	NM_005255.4(GAK):c.1222C>A (p.Leu408Met)	GAK (L408M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280476	NM_005255.4(GAK):c.436G>A (p.Asp146Asn)	GAK (D146N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280475	NM_005255.4(GAK):c.3923G>C (p.Arg1308Pro)	GAK (R1229P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280473	NM_005255.4(GAK):c.1897G>C (p.Gly633Arg)	GAK (G554R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280472	NM_005255.4(GAK):c.2653G>A (p.Gly885Ser)	GAK, LOC126806940 (G806S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280471	NM_005255.4(GAK):c.2561C>G (p.Ala854Gly)	GAK, LOC126806940 (A775G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280470	NM_005255.4(GAK):c.1060G>A (p.Ala354Thr)	GAK (A275T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280469	NM_005255.4(GAK):c.3004G>A (p.Ala1002Thr)	GAK, LOC126806940 (A1002T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280468	NM_005255.4(GAK):c.2323C>G (p.Pro775Ala)	GAK (P775A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280467	NM_005255.4(GAK):c.1745T>C (p.Met582Thr)	GAK (M582T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246746	NC_000004.11:g.(?_818260)_(1020391_?)del	GAK, IDUA +5 more	Deletion	not provided	GUncertain significance
Select item 3097981	NM_005255.4(GAK):c.844G>A (p.Asp282Asn)	GAK (D282N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097980	NM_005255.4(GAK):c.838C>T (p.Pro280Ser)	GAK (P201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097979	NM_005255.4(GAK):c.808C>G (p.Arg270Gly)	GAK (R270G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097978	NM_005255.4(GAK):c.803A>G (p.Lys268Arg)	GAK (K268R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097977	NM_005255.4(GAK):c.675G>A (p.Met225Ile)	GAK (M225I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097976	NM_005255.4(GAK):c.520C>A (p.Leu174Ile)	GAK (L174I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097975	NM_005255.4(GAK):c.3806G>A (p.Arg1269His)	GAK (R1190H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097974	NM_005255.4(GAK):c.3779C>T (p.Pro1260Leu)	GAK (P1260L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097973	NM_005255.4(GAK):c.3472G>A (p.Ala1158Thr)	GAK (A1158T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097972	NM_005255.4(GAK):c.3449C>T (p.Ala1150Val)	GAK (A1150V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097971	NM_005255.4(GAK):c.3239C>T (p.Pro1080Leu)	GAK (P1080L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097970	NM_005255.4(GAK):c.3219C>G (p.Ser1073Arg)	GAK (S1073R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097969	NM_005255.4(GAK):c.3004G>T (p.Ala1002Ser)	LOC126806940, GAK (A1002S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097968	NM_005255.4(GAK):c.2852G>A (p.Arg951Lys)	GAK, LOC126806940 (R872K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097967	NM_005255.4(GAK):c.2707G>T (p.Ala903Ser)	GAK, LOC126806940 (A824S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097966	NM_005255.4(GAK):c.2404G>A (p.Glu802Lys)	GAK, LOC126806940 (E723K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097965	NM_005255.4(GAK):c.2369G>A (p.Arg790His)	GAK (R790H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097964	NM_005255.4(GAK):c.224A>G (p.Glu75Gly)	GAK (E75G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097963	NM_005255.4(GAK):c.2212A>G (p.Ser738Gly)	GAK (S659G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097962	NM_005255.4(GAK):c.1877G>A (p.Gly626Asp)	GAK (G626D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097961	NM_005255.4(GAK):c.1738G>A (p.Val580Met)	GAK (V501M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097960	NM_005255.4(GAK):c.1579C>T (p.Arg527Cys)	GAK (R527C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097959	NM_005255.4(GAK):c.1490G>A (p.Arg497Gln)	GAK (R497Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097958	NM_005255.4(GAK):c.1418G>C (p.Gly473Ala)	GAK (G394A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097957	NM_005255.4(GAK):c.1151G>A (p.Arg384Gln)	GAK (R305Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685955	GRCh37/hg19 4p16.3(chr4:607649-929424)x3	ATP5ME, CPLX1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685953	GRCh37/hg19 4p16.3(chr4:444267-1325962)x3	ATP5ME, CPLX1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2655235	GRCh37/hg19 4p16.3(chr4:619416-1107252)x3	ATP5ME, CPLX1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 2654531	NM_005255.4(GAK):c.2359G>T (p.Asp787Tyr)	GAK (D708Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654530	NM_005255.4(GAK):c.2382G>T (p.Thr794=)	GAK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654529	NM_005255.4(GAK):c.3765C>T (p.Ala1255=)	GAK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611061	NM_005255.4(GAK):c.319A>T (p.Ile107Leu)	GAK (I107L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607529	NM_005255.4(GAK):c.463A>G (p.Thr155Ala)	GAK (T155A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604179	NM_005255.4(GAK):c.848C>G (p.Thr283Arg)	GAK (T204R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603614	NM_005255.4(GAK):c.3578C>G (p.Ser1193Cys)	GAK (S1114C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596461	NM_005255.4(GAK):c.1021G>A (p.Ala341Thr)	GAK (A262T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592443	NM_005255.4(GAK):c.2674G>A (p.Ala892Thr)	GAK, LOC126806940 (A892T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2570351	NM_005255.4(GAK):c.962A>C (p.Asn321Thr)	GAK (N242T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566248	NM_005255.4(GAK):c.3218G>C (p.Ser1073Thr)	GAK (S1073T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560201	NM_005255.4(GAK):c.2635G>C (p.Asp879His)	GAK, LOC126806940 (D800H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559918	NM_005255.4(GAK):c.1315C>T (p.Arg439Trp)	GAK (R439W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547305	NM_005255.4(GAK):c.3919T>C (p.Ser1307Pro)	GAK (S1228P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544493	NM_005255.4(GAK):c.2966C>T (p.Ser989Phe)	GAK, LOC126806940 (S910F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542988	NM_005255.4(GAK):c.2938C>A (p.Leu980Ile)	GAK, LOC126806940 (L901I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534954	NM_005255.4(GAK):c.3262G>A (p.Asp1088Asn)	GAK (D1009N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531094	NM_005255.4(GAK):c.1566C>G (p.Phe522Leu)	GAK (F522L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525921	NM_005255.4(GAK):c.3719C>T (p.Thr1240Ile)	GAK (T1161I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517081	NM_005255.4(GAK):c.3920C>T (p.Ser1307Phe)	GAK (S1228F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516149	NM_005255.4(GAK):c.2681C>T (p.Pro894Leu)	GAK, LOC126806940 (P894L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511647	NM_005255.4(GAK):c.2602C>G (p.Pro868Ala)	GAK, LOC126806940 (P868A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495767	NM_005255.4(GAK):c.3886A>C (p.Asn1296His)	GAK (N1296H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493925	NM_005255.4(GAK):c.1848C>A (p.Asp616Glu)	GAK (D616E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488844	NM_005255.4(GAK):c.3409C>G (p.Pro1137Ala)	GAK (P1058A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486602	NM_005255.4(GAK):c.2574G>T (p.Gln858His)	GAK, LOC126806940 (Q779H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475109	NM_005255.4(GAK):c.190A>G (p.Arg64Gly)	GAK (R64G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462078	NM_005255.4(GAK):c.494A>G (p.Gln165Arg)	GAK (Q86R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459430	NM_005255.4(GAK):c.2899T>A (p.Ser967Thr)	GAK, LOC126806940 (S967T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458333	NM_005255.4(GAK):c.839C>T (p.Pro280Leu)	GAK (P201L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2423740	NC_000004.11:g.(?_520808)_(1020391_?)del	ATP5ME, CPLX1 +11 more	Deletion	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2422458	NC_000004.11:g.(?_493125)_(1843544_?)del	ATP5ME, CPLX1 +25 more	Deletion	not provided	GUncertain significance
Select item 2409843	NM_005255.4(GAK):c.3851A>G (p.Tyr1284Cys)	GAK (Y1205C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406697	NM_005255.4(GAK):c.2536G>A (p.Asp846Asn)	GAK, LOC126806940 (D767N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399649	NM_005255.4(GAK):c.2947G>A (p.Glu983Lys)	GAK, LOC126806940 (E904K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392808	NM_005255.4(GAK):c.964G>A (p.Val322Met)	GAK (V322M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390409	NM_005255.4(GAK):c.3848C>T (p.Pro1283Leu)	GAK (P1283L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390326	NM_005255.4(GAK):c.1433G>A (p.Arg478Gln)	GAK (R399Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389772	NM_005255.4(GAK):c.1370C>T (p.Pro457Leu)	GAK (P457L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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